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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 191 to 200 of 200:
"Cat's cradle" midfacial fixation in distraction osteogenesis after Le Fort III osteotomy.
30 Oct 2004 
Distraction osteogenesis has provided a powerful technique for the treatment of severe midfacial hypoplasia. Skeletal fixation is a critical component of successful distraction osteogenesis. This is a report on the development of a new approach to ...
rec_pub_15547380-cat-s-cradle-midfacial-fixation-distraction-osteogenesis-le-fort-iii.htm
Tracheal anomalies in Pfeiffer syndrome.
30 Oct 2004 
OBJECTIVE: To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome. DESIGN: Retrospective case series. SETTING: Academic tertiary care pediatric hospital. PARTICIPANTS: Eleven patients with Pfeiffer syndrome, 6 of ...
rec_pub_15545585-tracheal-anomalies-pfeiffer-syndrome.htm
11 Aug 2004 Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. Here we ...
rec_pub_15310757-a-soluble-form-fibroblast-growth-factor-receptor-2-fgfr2-s252w.htm
Prenatal diagnosis of Pfeiffer syndrome type II.
30 Jul 2004 Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of ...
rec_pub_15305355-prenatal-diagnosis-pfeiffer-syndrome-type-ii.htm
Computed tomography assessment of Apert syndrome.
18 Jul 2004 Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with ...
rec_pub_15273784-computed-tomography-assessment-apert-syndrome.htm
Analysis of intracranial volume in apert syndrome genotypes.
29 Jun 2004 OBJECTIVE: Apert syndrome is caused by a mutation of the fibroblastic growth factor type 2 gene and in nearly all of the cases where the mutation has been identified it occurs in one of two adjacent sites of the gene, either position 252 or position ...
rec_pub_15608488-analysis-intracranial-volume-apert-syndrome-genotypes.htm
From midface distraction to the "true monoblock".
29 Jun 2004 In treating craniosynostosis, during the past 2 decades it has become accepted practice to perform fronto-orbital advancement and delay midfacial surgery. Corneal exposure,associated airway difficulties, and psychosocial problems remained untreated ...
rec_pub_15219752-from-midface-distraction-true-monoblock.htm
Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.
29 Jun 2004 Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep ...
rec_pub_15213550-undiagnosed-obstructive-sleep-apnea-syndrome-children-syndromal.htm
[Complex craniofacial synostoses]
4 May 2004 BACKGROUND: Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities. MATERIAL AND METHODS: On the basis ...
rec_pub_15131704-complex-craniofacial-synostoses.htm
29 Apr 2004 OBJECTIVE: To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). METHODS: Four families with ...
rec_pub_15151448-clinical-findings-four-brazilian-families-affected-saethre-chotzen.htm
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